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Article

Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis.

The Journal of international medical research - 1 Jan 2000

Li H-Y, Ma H-W, Wang H-Q, Ma W-H

Abstract excerpt

This study investigated the relationship between a cathepsin K (CTSK) gene mutation and the pathogenesis of pycnodysostosis in a Chinese patient. A typical pycnodysostosis case and 30 healthy controls were enrolled into the study. Genomic DNA was extracted from blood samples taken from the patient and controls, and the encoding exons of CTSK were amplified and sequenced. Sequencing of the CTSK gene revealed...

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Identifiers

PMID: 19215700
DOI: 10.1177/147323000903700133

Genes

CTSK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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